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Etiology and clinical course of severe and extreme thrombocytosis in children: a retrospective single-center study.
Eur J Pediatr
November 2024
Department of Hematology & Oncology, Kobe Children's Hospital, Minatojima-Minamimachi 1-6-7, Chuo-Ku, Kobe, 650-0047, Japan.
Article Synopsis
- This study focused on children aged 0-18 years with severe (ST) and extreme thrombocytosis (ET), analyzing over 120 patients with platelet counts exceeding 900,000/µL to understand their causes and clinical outcomes.
- The most common underlying conditions were congenital heart disease and Kawasaki disease, with only a small percentage showing primary thrombocytosis and a low incidence of thrombosis.
- It was found that lower hemoglobin levels at the onset of thrombocytosis were linked to the development of ET, indicating potential differences in how thrombocytosis manifests in children compared to adults.
[A child with persistent anaemia].
Tidsskr Nor Laegeforen
March 2024
Barneavdeling for kreft- og blodsykdommer, Oslo universitetssykehus, Rikshospitalet.
Background: Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose.
Case Presentation: A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count.
Transient erythroblastopenia of childhood is a rare, benign, self-limited condition seen in infants and young children. Laboratory studies will show moderate or severe normochromic normocytic anemia accompanied by absent or low reticulocytes, neutropenia, and mild thrombocytosis or thrombocytopenia. The etiology is unclear, but it has been associated with clinical or laboratory evidence of a recent viral syndrome.
View Article and Find Full Text PDFHereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.
Ann Hematol
January 2024
Department of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Thrombopoietin (THPO) is an essential factor for platelet production. Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO, MPL, or JAK2 and is inherited in an autosomal-dominant manner. We identified a Japanese family with HT due to a point mutation of the splicing donor site of the THPO gene (THPO c.
View Article and Find Full Text PDFTHROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders.
Hamostaseologie
August 2024
Center of Inherited Blood Cell Disorders, University Hospital Würzburg, Würzburg, Germany.
Inherited platelet disorders (IPDs) represent a heterogeneous group of disorders that include both quantitative (thrombocytopenia or thrombocytosis) and qualitative (thrombocytopathy) defects. To gain better knowledge about the prevalence, pathogenesis, and clinical consequences of specific diseases, to improve diagnosis and treatment of patients with IPD, and to support translational research on a genetic, molecular, and physiological basis, the THROMKIDplus study group currently comprising 24 sites in Germany, Austria, and Switzerland decided to establish a patient registry with associated biomaterial banking for children. This registry is designed as a retrospective-prospective, multicenter observational study and supposed to launch in the second half of 2023.
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